Question 1

Frame-shift mutations

Accepted Answer

A)  result in a single amino acid substitution. 
B)  almost always lead to loss of function. 
C)  result from only single or double base deletions of a base(s). 
D)  cause the ribosome to misread mRNA. 
E)  result only from the addition of an extra base. 
A)  result in a single amino acid substitution. 
B)  almost always lead to loss of function. 
C)  result from only single or double base deletions of a base(s). 
D)  cause the ribosome to misread mRNA. 
E)  result only from the addition of an extra base.

Question 2

DNA is _______ charged due to the presence of a _______ group.

Accepted Answer

A)  negatively; methyl 
B)  negatively; phosphate 
C)  negatively; carbon 
D)  positively; methyl 
E)  positively; phosphate 
A)  negatively; methyl 
B)  negatively; phosphate 
C)  negatively; carbon 
D)  positively; methyl 
E)  positively; phosphate

Question 3

Genetic mutations are often expressed phenotypically as

Accepted Answer

A)  dysfunctional enzymes. 
B)  abnormal receptor proteins. 
C)  abnormal transport proteins. 
D)  abnormal structural proteins. 
E)  All of the above 
A)  dysfunctional enzymes. 
B)  abnormal receptor proteins. 
C)  abnormal transport proteins. 
D)  abnormal structural proteins. 
E)  All of the above

Question 4

Gain of function mutations

Accepted Answer

A)  are dominant mutations that are expressed in wild-type cells. 
B)  are dominant mutations that are expressed in mutant cells. 
C)  are the cause of continuous division in cancer cells. 
D)  can be analyzed only under restrictive conditions. 
E)  are expressed only with the appropriate environmental signals. 
A)  are dominant mutations that are expressed in wild-type cells. 
B)  are dominant mutations that are expressed in mutant cells. 
C)  are the cause of continuous division in cancer cells. 
D)  can be analyzed only under restrictive conditions. 
E)  are expressed only with the appropriate environmental signals.

Question 5

The molecular basis of which of the following human diseases is most similar to "mad cow disease"?

Accepted Answer

A)  Sickle-cell anemia 
B)  Huntington's disease 
C)  Duchenne muscular dystrophy 
D)  Alzheimer's disease 
E)  Fragile-X syndrome 
A)  Sickle-cell anemia 
B)  Huntington's disease 
C)  Duchenne muscular dystrophy 
D)  Alzheimer's disease 
E)  Fragile-X syndrome

Question 6

Which of the following enzymes would a bacterium most likely use to prevent its DNA from being chopped up by its own restriction enzymes?

Accepted Answer

A)  DNA polymerase 
B)  Ligase 
C)  Lactase 
D)  Reverse transcriptase 
E)  Methylase 
A)  DNA polymerase 
B)  Ligase 
C)  Lactase 
D)  Reverse transcriptase 
E)  Methylase

Question 7

In sickle-cell disease,

Accepted Answer

A)  a clotting factor in the blood is nonfunctional. 
B)  the sixth amino acid is changed from a valine to a glutamic acid. 
C)  the sixth amino acid is changed to a stop codon. 
D)  hemoglobin builds up in the red blood cells. 
E)  the structure of $\beta$-globin is altered, and the hemoglobin protein forms aggregates in the red blood cells. 
A)  a clotting factor in the blood is nonfunctional. 
B)  the sixth amino acid is changed from a valine to a glutamic acid. 
C)  the sixth amino acid is changed to a stop codon. 
D)  hemoglobin builds up in the red blood cells. 
E)  the structure of $\beta$-globin is altered, and the hemoglobin protein forms aggregates in the red blood cells.

Question 8

For gene therapy to be successful,

Accepted Answer

A)  the new sequence of DNA must become part of the patient's genome. 
B)  the gene must be precisely inserted into the patient's cells. 
C)  the gene must be attached to a promoter that will express it. 
D)  Both a and b 
E)  a, b, and c 
A)  the new sequence of DNA must become part of the patient's genome. 
B)  the gene must be precisely inserted into the patient's cells. 
C)  the gene must be attached to a promoter that will express it. 
D)  Both a and b 
E)  a, b, and c

Question 9

Newborn screening tests are done for about 25 genetic diseases using the newborn babies' _______.

Accepted Answer

The answer of Newborn screening tests are done for about...

Question 10

The primary consequence of untreated phenylketonuria is

Accepted Answer

A)  muscle atrophy. 
B)  kidney failure. 
C)  mental retardation. 
D)  skeletal problems. 
E)  None of the above 
A)  muscle atrophy. 
B)  kidney failure. 
C)  mental retardation. 
D)  skeletal problems. 
E)  None of the above

Question 11

Somatic and germ line are two types of mutations found in multicellular organisms. Which of the following is a true statement regarding these two types of mutations?

Accepted Answer

A)  Somatic mutations occur during sex cell formation. 
B)  Germ line mutations occur during mitosis. 
C)  Somatic mutations are passed on to sexually produced offspring. 
D)  An example of a germ line mutation is hemophilia. 
E)  All of the above 
A)  Somatic mutations occur during sex cell formation. 
B)  Germ line mutations occur during mitosis. 
C)  Somatic mutations are passed on to sexually produced offspring. 
D)  An example of a germ line mutation is hemophilia. 
E)  All of the above

Question 12

Silent mutations have no effect on amino acid sequences. This is due to the fact that

Accepted Answer

A)  silent mutations are usually found in noncoding regions of DNA. 
B)  the genetic code is ambiguous. 
C)  silent mutations are recessive, and the presence of the dominant allele will result in a functional protein. 
D)  silent mutations are conditional mutagens, and their phenotypes are only altered under very restrictive conditions. 
E)  only a single base is involved in a series of thousands of nucleotides. 
A)  silent mutations are usually found in noncoding regions of DNA. 
B)  the genetic code is ambiguous. 
C)  silent mutations are recessive, and the presence of the dominant allele will result in a functional protein. 
D)  silent mutations are conditional mutagens, and their phenotypes are only altered under very restrictive conditions. 
E)  only a single base is involved in a series of thousands of nucleotides.

Question 13

Excess numbers of the CGG triplets in the FMR1 gene lead to clinical symptoms, including mental retardation, because the

Accepted Answer

A)  triplets bind to mRNAs of other genes. 
B)  cytosines in the repeats are more likely to be methylated, leading to inactivation of the gene. 
C)  triplets cause genomic imprinting. 
D)  triplets make the gene so large that its mRNA cannot be transported properly. 
E)  triplets cause the protein to fold incorrectly. 
A)  triplets bind to mRNAs of other genes. 
B)  cytosines in the repeats are more likely to be methylated, leading to inactivation of the gene. 
C)  triplets cause genomic imprinting. 
D)  triplets make the gene so large that its mRNA cannot be transported properly. 
E)  triplets cause the protein to fold incorrectly.

Question 14

Amniocentesis is commonly used in prenatal screening for _______.

Accepted Answer

genetic ab

Question 15

Which of the following chromosomal mutations would still allow protein X to be functional?

Accepted Answer

A)  Deletion of the last 100 codons of gene X 
B)  A duplication of gene X 
C)  An inversion of the last 100 codons of gene X 
D)  A translocation of the last 100 codons of gene X to another chromosome 
E)  None of the above 
A)  Deletion of the last 100 codons of gene X 
B)  A duplication of gene X 
C)  An inversion of the last 100 codons of gene X 
D)  A translocation of the last 100 codons of gene X to another chromosome 
E)  None of the above

Question 16

Mutations that result in human disease include

Accepted Answer

A)  expanding triplet repeats that occur during DNA synthesis. 
B)  point mutations that do not change the amino acid sequence of the gene. 
C)  prion diseases such as "mad cow" in humans. 
D)  mutations in restriction sites in the DNA. 
E)  Both a and d 
A)  expanding triplet repeats that occur during DNA synthesis. 
B)  point mutations that do not change the amino acid sequence of the gene. 
C)  prion diseases such as "mad cow" in humans. 
D)  mutations in restriction sites in the DNA. 
E)  Both a and d

Question 17

Which two methods are most often used in DNA fingerprinting?

Accepted Answer

A)  Homologous and antisense RNA recombination 
B)  Pharming and phishing 
C)  Restriction digestion and gel electrophoresis 
D)  Gel electrophoresis and creation of expression vectors 
E)  Homologous recombination and the construction of gene libraries 
A)  Homologous and antisense RNA recombination 
B)  Pharming and phishing 
C)  Restriction digestion and gel electrophoresis 
D)  Gel electrophoresis and creation of expression vectors 
E)  Homologous recombination and the construction of gene libraries

Question 18

Most genetic diseases are rare because

Accepted Answer

A)  each person is unlikely to be a carrier for harmful alleles. 
B)  genetic diseases are usually sex-linked and so uncommon in females. 
C)  genetic diseases are always dominant. 
D)  two parents probably do not carry the same recessive alleles. 
E)  mutation rates in humans are low. 
A)  each person is unlikely to be a carrier for harmful alleles. 
B)  genetic diseases are usually sex-linked and so uncommon in females. 
C)  genetic diseases are always dominant. 
D)  two parents probably do not carry the same recessive alleles. 
E)  mutation rates in humans are low.

Question 19

The test developed in 1963 to screen newborns for PKU

Accepted Answer

A)  involves positional cloning. 
B)  uses PCR and RFLPs to examine their DNA. 
C)  tests for the level of phenylalanine in their blood. 
D)  requires constructing a gene library. 
E)  None of the above 
A)  involves positional cloning. 
B)  uses PCR and RFLPs to examine their DNA. 
C)  tests for the level of phenylalanine in their blood. 
D)  requires constructing a gene library. 
E)  None of the above

Question 20

Newborn genetic screening for PKU

Accepted Answer

A)  is very expensive. 
B)  detects phenylketones in urine. 
C)  has not led to the prevention of mental retardation resulting from this disorder. 
D)  should be done during the second or third day of an infant's life. 
E)  uses bacterial growth to detect excess phenylketones in blood. 
A)  is very expensive. 
B)  detects phenylketones in urine. 
C)  has not led to the prevention of mental retardation resulting from this disorder. 
D)  should be done during the second or third day of an infant's life. 
E)  uses bacterial growth to detect excess phenylketones in blood.

Exam 15: Gene Mutation and Molecular Medicine

Frame-shift mutations

DNA is _______ charged due to the presence of a _______ group.

Genetic mutations are often expressed phenotypically as

Gain of function mutations

The molecular basis of which of the following human diseases is most similar to "mad cow disease"?

Which of the following enzymes would a bacterium most likely use to prevent its DNA from being chopped up by its own restriction enzymes?

In sickle-cell disease,

For gene therapy to be successful,

Newborn screening tests are done for about 25 genetic diseases using the newborn babies' _______.

The primary consequence of untreated phenylketonuria is

Somatic and germ line are two types of mutations found in multicellular organisms. Which of the following is a true statement regarding these two types of mutations?

Silent mutations have no effect on amino acid sequences. This is due to the fact that

Excess numbers of the CGG triplets in the FMR1 gene lead to clinical symptoms, including mental retardation, because the

Amniocentesis is commonly used in prenatal screening for _______.

Which of the following chromosomal mutations would still allow protein X to be functional?

Mutations that result in human disease include

Which two methods are most often used in DNA fingerprinting?

Most genetic diseases are rare because

The test developed in 1963 to screen newborns for PKU

Newborn genetic screening for PKU

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DNA is _ charged due to the presence of a _ group.